We present the case of a professional adolescent footballer who attended our clinic with ongoing instability symptoms and valgus knee deformity after conservative management of an medial collateral ligament injury. The patient was found to have sustained a contra-coup Salter Harris Type V injury to his lateral distal femur physis resulting in premature growth arrest and deformity. Salter Harris Type V injuries are rare, and often not diagnosed until growth has arrest has occurred due to lack of identifiable features on initial plain radiographs...

Leg and foot problems in childhood are common causes of parental concern. Rotational problems include intoeing and out-toeing. Intoeing is most common in infants and young children. Intoeing is caused by metatarsus adductus, internal tibial torsion, and femoral anteversion. Out-toeing is less common than intoeing and occurs more often in older children. Out-toeing is caused by external tibial torsion and femoral retroversion. Angular problems include genu varum (bowleg) and genu valgum (knock knee). With pes planus (flatfoot), the arch of the foot is usually flexible rather than rigid...

PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS...

PURPOSE: To determine the postural characteristics of patients with Class III dentofacial deformities before orthognathic surgery by photogrammetry using SAPO postural assessment software. MATERIALS AND METHODS: This was a cross-sectional study. Eligible participants were adult patients who had an indication for orthognathic surgery to correct skeletal Class III dentofacial deformities and were undergoing orthodontic preparation for surgery. Patients were recruited at the outpatient clinic for dentofacial deformities of the authors' institution from March to November 2015...

BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum...

BACKGROUND: There is a renewed interest in joint preservation surgery, and lateral opening wedge distal femoral osteotomy (DFO), a joint-preserving procedure, has been used to treat symptomatic genu valgum when the deformity originates in the distal femur. QUESTIONS/PURPOSES: This study aimed to measure the accuracy of lateral opening wedge DFO in achieving deformity correction using radiographic parameters. In addition, the ability of lateral opening wedge DFO to improve patient outcomes as measured by Short Form Health Survey (SF-36) scores and American Academy of Orthopedic Surgeons (AAOS) lower limb module (LLM) scores leading to successful joint preservation was assessed...

INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS...

PURPOSE: Recurrent patellar dislocation is often associated with genu valgum. The purpose of this study was to analyze the short-term results of single-incision, closing-wedge distal femoral osteotomy (CWDFO) combined with medial reefing and lateral release for recurrent patellar instability with genu valgum. MATERIALS AND METHODS: Combined CWDFO/medial reefing/lateral release was performed on 10 knees. Clinical evaluation was based on pre- and postoperative Knee Society Score (KSS) and Kujala patellofemoral score...

Twenty years ago, we described kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in northeast Brazil, carrying a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3 and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice and visceral obesity with reduced fat-free mass...

BACKGROUND: Patellar instability can cause significant disability in both pediatric and adult patients, and it is associated with several factors including genu valgum. In this study, we describe the role of a lateral opening wedge distal femoral osteotomy (DFO) combined with lateral retinacular release in addressing genu valgum with associated patellar instability. The rationale for this approach is to medialize the patellar tendon insertion and decrease the Q angle with DFO. METHODS: A consecutive series of patients were studied, and our outcomes of interest included improvements in radiographic measures and patient outcomes...

BACKGROUND: Obesity as a cause of lower extremity deformity in children has been well established. This deformity is most often seen as tibia vara, however, at our institution we have observed more obese children and adolescents over age 7 years with excessive or progressive idiopathic genu valgum. Our hypothesis is that children with idiopathic genu valgum have high rates of obesity which impact the severity of their disease. METHODS: Retrospective review of existing data was performed on 66 consecutive children/112 limbs over age 7 years with idiopathic genu valgum, seen from 2010 to 2013...

INTRODUCTION: Defective mineralization of osteoid matrix prior to physeal closure causes rickets. Poor calcification of the cartilage matrix in the zone of provisional calcification causes flattened skull, rachitic rosary, bowed legs, coxa vara and brittle bones. The recent literature has seen an increase in the incidence of the disease in both developing and developed nations. We evaluated behaviour of lower limb deformities due to nutritional rickets in 117 patients. MATERIALS AND METHODS: A prospective study was conducted from January 2009 to December 2011 for clinical and radiological evaluation of knee deformities in nutritional rickets...

OBJECTIVE: To correlate the Ahlbäck radiographic classification with the anterior cruciate ligament (ACL) status in knee arthritis patients. METHODS: The study evaluated 89 knees of patients who underwent total knee arthroplasty due to primary osteoarthritis: 16 male and 69 females, with mean age 69.79 years (53-87 years). Osteoarthritis was classified radiographically by the Ahlbäck radiographic classification into five grades. The ACL was classified in the surgery as present or absent...

Lateral compartment disease combined with valgus alignment can lead to progressive knee joint degeneration. In the symptomatic patient with isolated lateral compartment disease, a varus-producing distal femoral osteotomy can unload the diseased lateral compartment. This osteotomy may be combined with other cartilage or meniscal restorative techniques to optimize knee joint preservation and pain relief. The osteotomy can be performed with a medial closing-wedge or lateral opening-wedge technique. Both techniques have been reported to improve knee-related quality of life in patients with lateral compartment disease...

BACKGROUND: Growth modulation with implants facilitates correction of angular deformities and limb-length discrepancies (LLDs) in children. Close follow-up is necessary when using growth modulation to prevent overcorrection. We examined factors associated with late follow-up and overcorrection rates in patients with late versus timely follow-up. METHODS: This was a retrospective review of growth modulation procedures in children at 1 institution from 2000 through 2014...

BACKGROUND: Assessment of changes in anatomic alignment following guided growth traditionally utilizes full-length standing radiographs which subjects patients to larger radiation doses than does a single anteroposterior radiograph of the knee. In an effort to minimize radiation exposure, the present study sought to determine whether changes in screw divergence (SD) of the 2-hole tension band plate used for hemiepiphysiodesis reliably predicts change in alignment. METHODS: A retrospective review was conducted involving all patients with genu varum or genu valgum treated with hemiepiphysiodesis at a single institution...

INTRODUCTION: Different techniques for gradual correction of angular deformities of lower limbs exist. Screws and nonabsorbable filament has been described as an effective alternative for transitory hemiepiphysiodesis in New Zealand rabbits. HYPOTHESIS: Hemiepiphysiodesis using screws and non-absorbable filament is effective in pediatric population, for correction of genu valgum. METHODS: Retrospective evaluation, 12 knees in 6 patients younger than 15 years (3 female), operated because of genu valgum...

OBJECTIVES: It is known that the screws of the eight-plate hemiepiphysiodesis construct diverge as growth occurs through the physis. Our objective was to investigate whether there is a correlation between the amount of change of the joint orientation angle (JOA) and that of the interscrew angle (ISA) of the eight-plate hemiepiphysiodesis construct before and after correction. PATIENTS AND METHODS: After the institutional review board approval, medical charts and X-rays of all patients operated for either genu valgum or genu varum with eight-plate hemiepiphysiodesis were analyzed retrospectively...

Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia...

Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base...